NM_001276345.2(TNNT2):c.851+1G>ALikely pathogenic
Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 2;Cardiomyopathy, familial restrictive, 3;Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2|Cardiomyopathy|Cardiovascular phenotype|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|not provided
★★★☆2025
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)Likely pathogenic
Hypertrophic cardiomyopathy 2|not provided|Dilated cardiomyopathy 1D;Cardiomyopathy, familial restrictive, 3;Hypertrophic cardiomyopathy 2|Hypertrophic cardiomyopathy|Cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy, familial restrictive, 3|Dilated cardiomyopathy 1D
★★★☆2025→ Residue 297
NM_001276345.2(TNNT2):c.311G>A (p.Arg104His)Likely pathogenic
Hypertrophic cardiomyopathy|not provided|Hypertrophic cardiomyopathy 2;Cardiomyopathy, familial restrictive, 3;Dilated cardiomyopathy 1D|Cardiovascular phenotype|Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3
★★★☆2025→ Residue 104
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln)Pathogenic
Primary dilated cardiomyopathy|not provided|Hypertrophic cardiomyopathy 2;Cardiomyopathy, familial restrictive, 3;Dilated cardiomyopathy 1D|Dilated cardiomyopathy 1D|Cardiovascular phenotype|Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2
★★☆☆2026→ Residue 183
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del)Pathogenic
Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 2;Cardiomyopathy, familial restrictive, 3;Dilated cardiomyopathy 1D|not provided|Cardiovascular phenotype|Hypertrophic cardiomyopathy 2
★★☆☆2026→ Residue 173
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)Pathogenic
Dilated cardiomyopathy 1D|Primary dilated cardiomyopathy|not provided|Hypertrophic cardiomyopathy 2;Dilated cardiomyopathy 1D;Cardiomyopathy, familial restrictive, 3|Cardiovascular phenotype|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3
★★☆☆2026→ Residue 141
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln)Pathogenic
Hypertrophic cardiomyopathy 2|not provided|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 2;Dilated cardiomyopathy 1D;Cardiomyopathy, familial restrictive, 3|Cardiovascular phenotype|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3
★★☆☆2026→ Residue 102
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys)Pathogenic
Restrictive cardiomyopathy|not provided|Dilated cardiomyopathy 1D;Cardiomyopathy, familial restrictive, 3;Hypertrophic cardiomyopathy 2|Cardiovascular phenotype|Primary familial hypertrophic cardiomyopathy|Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D
★★☆☆2026→ Residue 104
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp)Pathogenic
not provided|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 2;Cardiomyopathy, familial restrictive, 3;Dilated cardiomyopathy 1D|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|Dilated cardiomyopathy 1D|Cardiomyopathy
★★☆☆2026→ Residue 102
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp)Pathogenic
Primary dilated cardiomyopathy|not provided|Hypertrophic cardiomyopathy 2;Dilated cardiomyopathy 1D;Cardiomyopathy, familial restrictive, 3|Dilated cardiomyopathy 1D|Cardiovascular phenotype|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|Cardiomyopathy
★★☆☆2026→ Residue 183
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)Pathogenic
Hypertrophic cardiomyopathy|not provided|Cardiovascular phenotype|Hypertrophic cardiomyopathy 2;Cardiomyopathy, familial restrictive, 3;Dilated cardiomyopathy 1D|Cardiomyopathy|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3
★★☆☆2026→ Residue 140
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe)Pathogenic
Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1D;Cardiomyopathy, familial restrictive, 3;Hypertrophic cardiomyopathy 2|Cardiovascular phenotype|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|Dilated cardiomyopathy 1D|not provided
★★☆☆2025→ Residue 189
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala)Pathogenic
Hypertrophic cardiomyopathy|not provided|Hypertrophic cardiomyopathy 2;Cardiomyopathy, familial restrictive, 3;Dilated cardiomyopathy 1D|Cardiovascular phenotype|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3
★★☆☆2025→ Residue 96
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn)Pathogenic
Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|Dilated cardiomyopathy 1D|not provided|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 2;Dilated cardiomyopathy 1D;Cardiomyopathy, familial restrictive, 3|Cardiomyopathy
★★☆☆2025→ Residue 89
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)Pathogenic
Dilated cardiomyopathy 1D|Primary dilated cardiomyopathy|not provided|Cardiovascular phenotype|Hypertrophic cardiomyopathy 2;Cardiomyopathy, familial restrictive, 3;Dilated cardiomyopathy 1D|Cardiomyopathy|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|TNNT2-related disorder
★★☆☆2025→ Residue 220
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)Pathogenic
Dilated cardiomyopathy 1D|Primary dilated cardiomyopathy|not provided|Primary dilated cardiomyopathy;Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 2;Dilated cardiomyopathy 1D;Cardiomyopathy, familial restrictive, 3|Familial isolated dilated cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|Cardiovascular phenotype
★★☆☆2025→ Residue 151
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu)Pathogenic
Hypertrophic cardiomyopathy|not provided|Hypertrophic cardiomyopathy 2;Cardiomyopathy, familial restrictive, 3;Dilated cardiomyopathy 1D|Cardiovascular phenotype|Hypertrophic cardiomyopathy 2;Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Cardiomyopathy
★★☆☆2025→ Residue 104
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu)Pathogenic
not provided|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|Dilated cardiomyopathy 1D|Cardiomyopathy|Dilated cardiomyopathy 1D;Cardiomyopathy, familial restrictive, 3;Hypertrophic cardiomyopathy 2
★★☆☆2025→ Residue 120
NM_001276345.2(TNNT2):c.851+1G>TPathogenic
Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1D;Cardiomyopathy, familial restrictive, 3;Hypertrophic cardiomyopathy 2|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3
★★☆☆2025
NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln)Pathogenic
Primary dilated cardiomyopathy|not provided|Hypertrophic cardiomyopathy 2;Cardiomyopathy, familial restrictive, 3;Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|TNNT2-related disorder
★★☆☆2025→ Residue 141